Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 15:34243993 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM022672 ; PhenCode IPNMDB_647 (G/A)

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 12861

HGVS names

This variant has 31 HGVS names - Hide

15:g.34243993G>A
ENST00000560611.5:c.2023C>T
ENSP00000454168.1:p.Arg675Ter
ENST00000558589.5:c.1996C>T
ENSP00000452776.1:p.Arg666Ter
ENST00000559664.5:c.2023C>T
ENSP00000453702.1:p.Arg675Ter
ENST00000397702.6:c.1846C>T
ENSP00000380814.2:p.Arg616Ter
ENST00000560023.1:n.136C>T
ENST00000560164.5:c.1459C>T
ENSP00000452705.1:p.Arg487Ter
ENST00000354181.7:c.2023C>T
ENSP00000346112.3:p.Arg675Ter
ENST00000458406.6:c.1846C>T
ENSP00000387725.2:p.Arg616Ter
ENST00000561080.5:c.2023C>T
ENSP00000454069.1:p.Arg675Ter
ENST00000397707.6:c.1978C>T
ENSP00000380819.2:p.Arg660Ter
ENST00000290209.9:c.1870C>T
ENSP00000290209.5:p.Arg624Ter
ENST00000559523.5:c.1846C>T
ENSP00000452904.1:p.Arg616Ter
ENST00000558667.5:c.2023C>T
ENSP00000453473.1:p.Arg675Ter
LRG_270:g.99072C>T
LRG_270t1:c.1870C>T
LRG_270p1:p.Arg624Ter
LRG_270t2:c.2023C>T
LRG_270p2:p.Arg675Ter

About this variant

This variant overlaps 16 transcripts and is associated with 2 phenotypes.

Variant displays